APPROXIMATE SAMPLING FORMULAS FOR GENERAL FINITE-ALLELES MODELS OF MUTATION.

APPROXIMATE SAMPLING FORMULAS FOR GENERAL FINITE-ALLELES MODELS OF MUTATION.
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DOI:
10.1239/aap/1339878718
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发表时间:
2012-06
影响因子:
1.2
通讯作者:
Song YS
Song YS
中科院分区:
数学4区
文献类型:
--
作者:
Bhaskar A;Kamm JA;Song YS

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遗传分析中的许多应用利用抽样分布,其描述了观察从群体中随机抽取的DNA序列样本的概率。在具有特殊突变模型(如无限等位基因模型或有限等位基因亲本独立突变模型)的单基因座情况下,几十年来一直知道合并下的闭合形式抽样分布。然而,目前还没有确切的公式来描述具有生物学意义的更一般的突变模型。在本文中,有限多的等位基因的模型被认为是一个瓮建设有关的结合是用来获得近似的封闭形式的抽样公式为任意的不可约的复发突变模型或可逆的复发突变模型,取决于不同的观察到的等位基因类型的数量是最多3或4,分别。经验表明,当每个碱基突变率较低时,这里推导的公式是高度准确的,这适用于许多生物有机体。
Many applications in genetic analyses utilize sampling distributions, which describe the probability of observing a sample of DNA sequences randomly drawn from a population. In the one-locus case with special models of mutation such as the infinite-alleles model or the finite-alleles parent-independent mutation model, closed-form sampling distributions under the coalescent have been known for many decades. However, no exact formula is currently known for more general models of mutation that are of biological interest. In this paper, models with finitely-many alleles are considered, and an urn construction related to the coalescent is used to derive approximate closed-form sampling formulas for an arbitrary irreducible recurrent mutation model or for a reversible recurrent mutation model, depending on whether the number of distinct observed allele types is at most three or four, respectively. It is demonstrated empirically that the formulas derived here are highly accurate when the per-base mutation rate is low, which holds for many biological organisms.
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